Submissions for variant NM_018979.4(WNK1):c.5281-4G>A

gnomAD frequency: 0.00269  dbSNP: rs72650740

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176110	SCV000227711	likely benign	not specified	2015-03-04	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000406110	SCV000381991	benign	Pseudohypoaldosteronism type 2C	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV001079121	SCV000649444	benign	Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000552134	SCV001148513	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	WNK1: BP4, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000552134	SCV002047846	likely benign	not provided	2023-11-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002354449	SCV002658389	likely benign	Inborn genetic diseases	2019-09-18	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000176110	SCV001977824	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000176110	SCV001979213	benign	not specified		no assertion criteria provided	clinical testing